@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v3.0.0/void/> .

dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_head {
  this: np:hasAssertion dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_assertion;
    np:hasProvenance dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_provenance;
    np:hasPublicationInfo dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_assertion a np:Assertion .
  
  dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_provenance a np:Provenance .
  
  dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_assertion {
  miriam-gene:3191 a ncit:C16612 .
  
  lld:C0004364 a ncit:C7057 .
  
  dgn-gda:DGN6333e89cac90128f88e9e5cd96416f2b sio:SIO_000628 miriam-gene:3191, lld:C0004364;
    a sio:SIO_001122 .
}

dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_provenance {
  dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_assertion dcterms:description
      "[Most notably, we demonstrate that the C77G polymorphism, which correlates with autoimmune disease susceptibility in humans, disrupts exon silencing by preventing the redundant activity of hnRNPs K and E2 to compensate for the weakened function of hnRNP L. Therefore, these studies provide an important example of the functional relevance of combinatorial function in splicing regulation and suggest that additional polymorphisms may similarly disrupt function of the ESS1 silencer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
    sio:SIO_000772 miriam-pubmed:21507955;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date .
  
  dgn-void:source_evidence_literature a eco:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP461993.RA_PhdnvZlHuSkoIme05rakUsa3TINc2yDV61MOvzNVr4130_publicationInfo {
  this: dcterms:created "2015-08-25T14:42:12+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetv3.0rdf;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}